Allele Registry

Canonical Allele Identifier: PA2827009128

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000473934

RCV002323695

ClinVar Variation:

406097

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ser1219Asn	CA16615016 NM_001318829.2:c.3656G>A